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Study On Association Of The LRP6 Gene R611C Polymorphism And Metabolic Syndrome

Posted on:2010-09-25Degree:MasterType:Thesis
Country:ChinaCandidate:J D WuFull Text:PDF
GTID:2144360272995908Subject:Clinical Medicine
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Background:Obesity,metabolic disorder and coronary heart disease which is induced by metabolic syndrome has seriously affected the quality of human beings'life,and greatly threaten to the life. Arya Mani found 1973rd base of LRP6 gene mutation from C to A. causing a cysteine (Cys) substitution of argi-nine (Arg ) in an Iran family with early metabolic syndrome and coronary heart disease characteristics in 2007.The 1973rd base pair comprising the corresponding amino acid codons for the 611st amino acid,When the 1973rd base pair for the C,it expresses amino acid for arginine (Arg),and the time for the base for the A,its base for the expression of cysteine(Cys),(that is LRP6 gene R611C).However, the researchers followed had not found the gene mutation in the large sample studied on people with metabolic syndrome of the United States and Iran. Japanese scholar Yukio Horikawa didn't discovery LRP6 gene R611C polymorphism that had relevance with type 2 diabetes when they studied on Japanese patients in 2008.This study to explore China's Jilin Han nationality occurrence of metabolic syndrome and LRP6 gene R611C polymorphism availability related to each other.Objective: To investigate the Han nationality in China's Jilin, the occurrence of metabolic syndrome and its related phenotypes with the LRP6 gene R611C polymorphism availability related to each other.Methods:194 cases in 2005 combined with the International Diabetes Federation (IDF),first enacted the definition of global unification and in accordance with the results of coronary angiography and then they are admissioned into the metabolic syndrome group(MS) (98 cases)and control group(96 cases).respectively,measured height,weight,waist circumference,blood pressure,fasting blood glucose,triglycerides, total cholesterol,high density lipoprotein cholesterol,low density lipoprotein cholesterol.58 cases with fasting blood glucose raised(>5.6mmol/L),66 cases with high blood pressure,and 62 cases with hyperlipidemia in MS group.66 cases with fasting blood glucose normal,66 cases with normal blood pressure,and 65 cases with normal blood lipid in control group.Using PCR-RFLP method detected LRP6 gene R611C polymorphism.Results: The statistical analysis through the study shows that MS group and control group at age no significant difference (P> 0.05),MS group and control group in the body mass index (BMI),waist circumference, systolic blood pressure (SBP),diastolic blood pressure (DBP),fasting blood glucose(GLU),triglyceride (TG),total cholesterol (CHO),high density lipoprotein cholesterol(HDL-C),low-density lipoprotein cholesterol (LDL-C) on both statistically significant difference ( P<0.05).MS group phenotype on with the control group was significantly different,but the PCR-RFLP method LRP6 Gene R611C gene polymorphism showed that:(1) MS groups and control analysis:MS group CC -type 14 cases (14.29%),RC-type 20 cases (20.41%), RR-type 64 cases (65.3%),CC-type control group 12 cases (12.5%),RC-type 24 cases (25%),RR60cases(62.5%),X~2 test drawn X~2 = 0.626,P = 0.731 (P>0.05).gene frequency between the two groups had no significant difference.(2) 58 cases with fasting blood glucose raised in MS group:CC-type 3 cases (5.17%),RC-type 11 cases (18.97%),RR-type 64 cases (65.3%).66 cases with fasting blood glucose normal in control group CC–type 4 cases (12.5%),RC-type 10 cases (25%),RR 52 cases (62.5%). X~2 test drawn X~2 = 0.3397, P = 0.8438 (P> 0.05),gene frequency between the two groups had no significant difference.(3) Hypertension group and normotensive group statistical analysis:66 cases with hypertension:CC-type 3 cases (5.17%),RC-type 11 cases (18.97%),RR-type 64 cases (65.3%);the control group CC-type 4 cases (12.5%), RC-type 10 cases (25%),RR52 cases( 62.5%) (see Table 3).X2 test drawn X2 = 0.246, P=0.8438 (P> 0.05),gene frequency between the two groups no significant difference. (4) Obesity group CC-type 14 cases (14.29%),RC-type 20 cases (20.41%),RR-type 64 cases (65.3%);control group CC-type 12 cases (12.5%),RC-type 24 cases (25%), RR60 (62.5%).X~2 test X~2 = 0.626,P = 0.731 (P> 0.05),gene frequency between the two groups had no significant difference.(5) 62 cases with hyperlipemia group CC-type13 cases (20.97%),RC-type 13 cases (20.97%),RR-type 36 cases (58.06%); 65 cases with normal blood lipid control group five cases of patients with CC-type (7.69%),RC-type 10 cases (15.38%),RR 50 cases (76.93%).X~2 test drawn X~2 = 6.518, P = 0.046 (P <0.05).Analysis showed that the gene frequencies between the two groups had significant differences.RR + RC and CC genotypes combined with the statistical analysis before and after correction odds ratio (Odds Ratio OR) was OR = 0.8854 (95% [CI] confidence interval,0.4926-1.5914;P=0.038) and OR = 1.4(95% [CI] confidence interval 0.5291-3.7041; P = 0.046).Conclusion:1, LRP6 gene R611C polymorphism and the occurrence of metabolic syndrome in Han people of China's Jilin areas patients had no correlation.2, LRP6 gene R611C polymorphism and the occurrence of hyperglycemia, hypertension and obesity in Han people of China's Jilin areas patients had no correlation.3, LRP6 gene R611C polymorphism and the occurrence of hyperlipemia in Han people of China's Jilin areas patients had had correlation.
Keywords/Search Tags:LRP6 gene R611C, genetic polymorphism, metabolic syndrome
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